Canonical Allele Identifier: CA1278354237

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897008C= , CM000664.2:g.108897008C= GRCh38
NC_000002.11:g.109513464C= , CM000664.1:g.109513464C= GRCh37
NC_000002.10:g.108879896C= NCBI36
NG_008257.1:g.97365G=

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1246G= (EDAR) MANE Select ENSP00000258443.2:p.Val416=
ENST00000258443.6:c.1246G= (EDAR) ENSP00000258443.2:p.Val416=
ENST00000376651.1:c.1342G= (EDAR) ENSP00000365839.1:p.Val448=
ENST00000409271.5:c.1342G= (EDAR) ENSP00000386371.1:p.Val448=
NM_022336.3:c.1246G= (EDAR) NP_071731.1:p.Val416=
XM_006712204.1:c.1342G= (EDAR) XP_006712267.1:p.Val448=
XM_011510502.1:c.1393G= (EDAR) XP_011508804.1:p.Val465=
XM_011510503.1:c.1297G= (EDAR) XP_011508805.1:p.Val433=
XM_011510504.1:c.673G= (EDAR) XP_011508806.1:p.Val225=
XM_011510502.2:c.1486G= (EDAR) XP_011508804.2:p.Val496=
XM_011510503.2:c.1390G= (EDAR) XP_011508805.2:p.Val464=
XM_017004623.2:c.8370+123962C= (RANBP2) XP_016860112.1:n.8370+123962C=
NM_022336.4:c.1246G= (EDAR) MANE Select NP_071731.1:p.Val416=